Overview

Vacuolar myopathy is a disease of the muscles (myopathy) that occurs when many abnormal pockets or spaces called vacuoles develop in the muscle cells. The vacuoles stop the muscles from working properly and cause weakness and difficulty moving and breathing. Muscles of the legs and arms are often affected, though muscles in other parts of the body (such as the heart or chest muscles used for breathing) may also be affected. There are several types of vacuolar myopathy; the parts of the body affected, as well as the severity and worsening of muscle weakness, vary among the types. The cause of most types of vacuolar myopathy is currently unknown.[1]